IthaID: 4192
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --FIL-3 | HGVS Name: | NC_000016.10:g.158789_185431del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | --26.6 kb deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in two unrelated carriers exhibiting a typical α⁰-thalassemia trait phenotype, characterized by marked microcytosis and hypochromia. The deletion encompasses the entire HBM, HBA2, HBA1, and HBQ1 genes. The proximal breakpoint is located downstream of HBZ, leaving the gene intact, whereas the distal breakpoint lies downstream of LUC7L, without disrupting its annotated gene sequence.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 19652 |
| Size: | 26.642 kb |
| Deletion involves: | α2, α1, HBM |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Filipino |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Frequencies
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Waye, John S. | 2026-08-11 | First report. |
Created on 2026-10-14 13:53:38,
Last reviewed on (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.